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Diverse mutations and structural variations contribute to Notch signaling deregulation in paediatric T-cell lymphoblastic lymphoma
(Wiley, 2022-11)
Background T-cell lymphoblastic lymphoma (T-LBL) is an aggressive neoplasm closely related to T-cell acute lymphoblastic leukaemia (T-ALL). Despite their similarities, and contrary to T-ALL, studies on paediatric T-LBL are ...
Accuracy in Copy Number Calling by qPCR and PRT : A Matter of DNA
(Public Library of Science, 2011-12-13)
The possible implication of copy number variation (CNV) in the genetic susceptibility to human disease needs to be assessed using robust methods that can be applied at a population scale. In this report, we analyze the ...
Celiac disease in the Mediterranean area
(BioMed Central, 2014-02)
Background: The World Gastroenterology Organization recommends developing national guidelines for the diagnosis of Celiac Disease (CD): hence a profile of the diagnosis of CD in each country is required. We aim to describe ...
Gene Expression Profiling Reveals New Pathways and Genes Associated with Visna/Maedi Viral Disease
(MDPI, 2021-06-15)
Visna/Maedi virus (VMV) is a lentivirus that infects the cells of the monocyte/macrophage lineage in sheep, goats and wild ruminants. Infection with VMV causes a multisystemic inflammatory disorder, which includes pneumonia, ...
Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene
(Public Library Science, 2015-07-06)
Age of onset (AO) of Huntington disease (HD) is mainly determined by the length of the CAG repeat expansion (CAGexp) in exon 1 of the HTT gene. Additional genetic variation has been suggested to contribute to AO, although ...
The methylome of the celiac intestinal epithelium harbours genotype-independent alterations in the HLA region
(Nature Publishing, 2019-02-04)
The Human Leucocyte Antigen (HLA) locus and other DNA sequence variants identified in Genome-Wide Association (GWA) studies explain around 50% of the heritability of celiac disease (CD). However, the pathogenesis of CD ...
Retroviral Infections in Sheep and Goats: Small Ruminant Lentiviruses and Host Interaction
(MDPI, 2013-08)
Small ruminant lentiviruses (SRLV) are members of the Retrovirus family comprising the closely related Visna/Maedi Virus (VMV) and the Caprine Arthritis-Encephalitis Virus (CAEV), which infect sheep and goats. Both infect ...
Small GTPases of the Rab and Arf Families: Key Regulators of Intracellular Trafficking in Neurodegeneration
(MDPI, 2021-04-23)
Small guanosine triphosphatases (GTPases) of the Rab and Arf families are key regulators of vesicle formation and membrane trafficking. Membrane transport plays an important role in the central nervous system. In this ...
Epigenetic remodelling of enhancers in response to estrogen deprivation and re-stimulation
(Oxford University Press, 2021-09-27)
Estrogen hormones are implicated in a majority of breast cancers and estrogen receptor alpha (ER), the main nuclear factor mediating estrogen signaling, orchestrates a complex molecular circuitry that is not yet fully ...
The Tyrosine Phosphatase hPTPRβ Controls the Early Signals and Dopaminergic Cells Viability via the P2X7 Receptor
(MDPI, 2021-11-29)
ATP, one of the signaling molecules most commonly secreted in the nervous system and capable of stimulating multiple pathways, binds to the ionotropic purinergic receptors, in particular, the P2X7 receptor (P2X7R) and ...